R1178Q (p.Arg1178Gln) variant of WDR19 (WD repeat-containing protein 19)
R1178Q (p.Arg1178Gln) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of WDR19-related disorder; Nephronophthisis 13; Senior-Loken syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R1178Q (p.Arg1178Gln) variant details
- p.Arg1178Gln
- rs79436363
- ClinGen CA151412
- ClinVar RCV000115014
- ClinVar RCV000433622
- Pathogenic/Likely pathogenic
- WDR19-related disorder; Nephronophthisis 13; Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.64
- MetaSVM 0.17
- CADD 25.50
- ClinVar: Pathogenic/Likely pathogenic (WDR19-related disorder; Nephronophthisis 13; Senior-Loken syndro)
- EBI: Pathogenic (in SLSN8)
- UniProt: Pathogenic (in SLSN8)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Cited in: Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. (PMID 23559409)
- Cited in: Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of… (PMID 25726036)